Mutagenetix > Incidental Mutation

Incidental Mutation 'R2281:Kctd19'

243137

Institutional Source

Beutler Lab

Gene Symbol

Kctd19

Ensembl Gene

ENSMUSG00000051648

Gene Name

potassium channel tetramerisation domain containing 19

Synonyms

4922504H04Rik

MMRRC Submission

040280-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R2281 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105382807-105413502 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105387266 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 592 (T592A)

Ref Sequence

ENSEMBL: ENSMUSP00000050687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014927] [ENSMUST00000063071] [ENSMUST00000159286] [ENSMUST00000167294] [ENSMUST00000168196]

AlphaFold

Q562E2

Predicted Effect

probably benign
Transcript: ENSMUST00000014927

SMART Domains

Protein: ENSMUSP00000014927
Gene: ENSMUSG00000014782

Domain	Start	End	E-Value	Type
low complexity region	364	377	N/A	INTRINSIC
low complexity region	440	451	N/A	INTRINSIC
low complexity region	463	475	N/A	INTRINSIC
low complexity region	535	547	N/A	INTRINSIC
low complexity region	559	577	N/A	INTRINSIC
low complexity region	653	664	N/A	INTRINSIC
low complexity region	701	718	N/A	INTRINSIC
RhoGEF	729	900	3.15e-29	SMART
PH	914	1022	1.44e-5	SMART
low complexity region	1148	1169	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000063071
AA Change: T592A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000050687
Gene: ENSMUSG00000051648
AA Change: T592A

Domain	Start	End	E-Value	Type
Pfam:BTB_2	15	92	1.3e-9	PFAM
internal_repeat_1	173	251	8.34e-9	PROSPERO
internal_repeat_1	429	509	8.34e-9	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000159286

SMART Domains

Protein: ENSMUSP00000125556
Gene: ENSMUSG00000014782

Domain	Start	End	E-Value	Type
SCOP:d1aua_2	136	275	5e-9	SMART
Blast:SEC14	137	271	9e-8	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161672

Predicted Effect

probably benign
Transcript: ENSMUST00000167294
AA Change: T569A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130831
Gene: ENSMUSG00000051648
AA Change: T569A

Domain	Start	End	E-Value	Type
Pfam:BTB_2	15	93	3.9e-10	PFAM
internal_repeat_1	173	251	6.24e-9	PROSPERO
internal_repeat_1	406	486	6.24e-9	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000168196

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	A	G	3: 146,646,424	L228S	probably damaging	Het
Abca13	A	T	11: 9,328,136	K3105N	probably damaging	Het
Abca3	T	A	17: 24,376,726	L351Q	possibly damaging	Het
Acadm	A	G	3: 153,933,043	I231T	possibly damaging	Het
Adamts4	A	T	1: 171,256,229	Q456L	probably damaging	Het
Adgra3	C	T	5: 50,001,880	V343I	probably benign	Het
Ajuba	C	A	14: 54,577,188	G26V	probably damaging	Het
Aldh1a1	A	G	19: 20,620,091	I145M	possibly damaging	Het
Ankrd42	G	A	7: 92,625,773	Q110*	probably null	Het
Ano3	T	A	2: 110,682,759	E630D	probably benign	Het
Ap3d1	T	C	10: 80,713,998	D771G	probably damaging	Het
Arhgap30	A	G	1: 171,389,328	D21G	probably damaging	Het
Atg13	T	C	2: 91,679,425	N374S	probably benign	Het
Ccser1	A	T	6: 61,570,815	M49L	probably damaging	Het
Cdh5	A	G	8: 104,125,733	E160G	probably damaging	Het
Cpd	T	C	11: 76,797,801	K882E	probably benign	Het
Crtac1	G	A	19: 42,283,567	L646F	unknown	Het
Cyp27b1	T	G	10: 127,048,294	V5G	probably damaging	Het
Dcaf11	G	T	14: 55,569,371	*550Y	probably null	Het
Dhx58	A	G	11: 100,698,154		probably null	Het
Dlg2	T	A	7: 92,438,041	I881N	probably damaging	Het
Ece1	C	T	4: 137,946,362	T407M	possibly damaging	Het
Ecsit	C	T	9: 22,076,540	V68I	possibly damaging	Het
Egln1	T	C	8: 124,948,414	D214G	probably benign	Het
Espn	T	C	4: 152,135,545	T47A	possibly damaging	Het
F5	A	G	1: 164,195,720	I1616V	possibly damaging	Het
Fam43b	G	C	4: 138,395,098	R304G	probably benign	Het
Flnc	G	A	6: 29,438,666	W186*	probably null	Het
Fryl	T	C	5: 73,041,364	D2640G	possibly damaging	Het
Gabrg2	T	C	11: 41,976,636	K52R	possibly damaging	Het
Ganab	T	C	19: 8,909,468	V306A	probably damaging	Het
Glod4	A	T	11: 76,237,809	I70N	possibly damaging	Het
Gm8251	T	A	1: 44,056,460	H1826L	possibly damaging	Het
Gsn	T	A	2: 35,283,918	V2E	probably benign	Het
Hist1h1c	A	G	13: 23,738,924	K26E	probably benign	Het
Hrg	C	T	16: 22,961,309		probably benign	Het
Kdm3b	A	G	18: 34,808,419	D521G	probably damaging	Het
Lrba	A	G	3: 86,776,103	H2744R	possibly damaging	Het
Lsr	C	T	7: 30,958,345	A397T	probably damaging	Het
Methig1	A	T	15: 100,353,360	M51L	possibly damaging	Het
Mga	A	G	2: 119,903,723	I351V	probably benign	Het
Mlf1	G	A	3: 67,399,751	V250I	possibly damaging	Het
Mreg	A	T	1: 72,192,064	N78K	probably damaging	Het
Mtor	A	G	4: 148,489,555	D1294G	probably benign	Het
Nfkb1	T	C	3: 135,601,521	I548V	probably damaging	Het
Nlrp3	T	C	11: 59,549,136	F513S	possibly damaging	Het
Nphp4	A	G	4: 152,557,043	K1094E	possibly damaging	Het
Nr3c2	C	A	8: 76,909,907	H546N	probably damaging	Het
Nr4a2	T	A	2: 57,112,199	M18L	probably benign	Het
Olfr1214	G	A	2: 88,987,470	T244I	probably benign	Het
Olfr1392	A	C	11: 49,293,632	T104P	probably benign	Het
Pclo	A	G	5: 14,540,332	N882S	unknown	Het
Pde6a	T	C	18: 61,262,434	Y583H	probably damaging	Het
Pip5k1b	T	A	19: 24,378,947	Y209F	probably damaging	Het
Plch2	A	T	4: 154,984,309	S1182T	probably damaging	Het
Ptger2	G	T	14: 44,989,650	R229L	probably damaging	Het
Ptpru	C	A	4: 131,808,499	G389V	probably damaging	Het
Ric8a	A	G	7: 140,861,938	N249S	probably benign	Het
Slc26a5	A	G	5: 21,831,510	I266T	possibly damaging	Het
Smyd1	T	C	6: 71,238,676	N100D	probably damaging	Het
Stag3	T	C	5: 138,298,284	F468S	probably damaging	Het
Stk31	C	T	6: 49,417,250	T182I	probably damaging	Het
Svep1	G	T	4: 58,082,677	N1982K	possibly damaging	Het
Thegl	T	C	5: 77,059,367	I324T	probably damaging	Het
Tinagl1	A	G	4: 130,166,993	Y344H	probably damaging	Het
Tmem216	T	A	19: 10,551,873	T104S	probably damaging	Het
Tmem231	T	C	8: 111,918,931	D112G	probably damaging	Het
Ube4b	A	G	4: 149,344,572	I870T	probably damaging	Het
Vwa8	T	A	14: 79,064,996	L1035Q	possibly damaging	Het
Wdr35	A	G	12: 8,978,628	Q82R	probably benign	Het
Wnk1	A	T	6: 119,963,640		probably null	Het
Zc3h7a	T	C	16: 11,158,594		probably benign	Het
Zfp532	T	C	18: 65,624,712	V572A	probably damaging	Het

Other mutations in Kctd19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Kctd19	APN	8	105388463	critical splice donor site	probably null
IGL01546:Kctd19	APN	8	105386962	missense	probably benign
IGL01786:Kctd19	APN	8	105390304	missense	probably benign	0.03
IGL01964:Kctd19	APN	8	105388525	missense	probably damaging	0.99
IGL02275:Kctd19	APN	8	105396374	missense	probably damaging	0.99
IGL02479:Kctd19	APN	8	105384768	missense	probably damaging	1.00
IGL03124:Kctd19	APN	8	105387070	missense	possibly damaging	0.48
R0003:Kctd19	UTSW	8	105395361	missense	probably damaging	0.99
R1183:Kctd19	UTSW	8	105382966	missense	probably benign
R1388:Kctd19	UTSW	8	105392051	missense	probably null	0.93
R1491:Kctd19	UTSW	8	105387062	missense	possibly damaging	0.60
R1517:Kctd19	UTSW	8	105395376	missense	probably damaging	1.00
R1540:Kctd19	UTSW	8	105387879	missense	probably damaging	0.96
R1582:Kctd19	UTSW	8	105395460	missense	probably damaging	1.00
R1964:Kctd19	UTSW	8	105388470	missense	probably damaging	0.98
R1996:Kctd19	UTSW	8	105395300	missense	probably null	1.00
R2129:Kctd19	UTSW	8	105385172	missense	probably damaging	0.98
R3767:Kctd19	UTSW	8	105396480	missense	probably benign	0.04
R3768:Kctd19	UTSW	8	105396480	missense	probably benign	0.04
R4285:Kctd19	UTSW	8	105382949	unclassified	probably benign
R4621:Kctd19	UTSW	8	105396471	missense	probably damaging	1.00
R4701:Kctd19	UTSW	8	105390429	missense	possibly damaging	0.76
R4969:Kctd19	UTSW	8	105396327	splice site	probably null
R5070:Kctd19	UTSW	8	105391999	missense	probably damaging	1.00
R5401:Kctd19	UTSW	8	105382985	missense	probably benign	0.00
R5582:Kctd19	UTSW	8	105408443	missense	probably damaging	1.00
R5783:Kctd19	UTSW	8	105386980	missense	probably benign
R6056:Kctd19	UTSW	8	105396450	missense	probably damaging	0.99
R6057:Kctd19	UTSW	8	105396450	missense	probably damaging	0.99
R6269:Kctd19	UTSW	8	105395360	missense	possibly damaging	0.96
R6273:Kctd19	UTSW	8	105385485	missense	probably benign
R6631:Kctd19	UTSW	8	105385328	critical splice donor site	probably null
R7298:Kctd19	UTSW	8	105382984	missense	probably benign	0.01
R7474:Kctd19	UTSW	8	105392032	missense	probably benign	0.25
R7540:Kctd19	UTSW	8	105386935	missense	probably benign	0.00
R7923:Kctd19	UTSW	8	105385058	missense	probably damaging	1.00
R8059:Kctd19	UTSW	8	105396351	missense	probably benign	0.02
R8117:Kctd19	UTSW	8	105395437	missense	unknown
R8836:Kctd19	UTSW	8	105385396	missense	probably damaging	0.98
R9155:Kctd19	UTSW	8	105393939	missense	probably benign	0.01
R9429:Kctd19	UTSW	8	105383020	missense	probably damaging	0.98
R9481:Kctd19	UTSW	8	105393617	missense	probably benign	0.00
Z1088:Kctd19	UTSW	8	105385335	missense	probably benign	0.02
Z1176:Kctd19	UTSW	8	105385136	missense	probably damaging	1.00
Z1177:Kctd19	UTSW	8	105388517	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGGAGGGTCTTTGGCATC -3'
(R):5'- GGGGTAAGATTGTCCTGAGC -3'

Sequencing Primer
(F):5'- AGGGTCTTTGGCATCAGGTTTC -3'
(R):5'- AGGCTGTCTTAAAGCCCAG -3'

Posted On

2014-10-16